Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L2
Variant:p.C70R
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MAD2L2

NM_006341.4:p.C70R

Associated Papers

REV7: Jack of many trades.

de Krijger I et al.

Trends in Cell Biology, 2021

53BP1 cooperation with the REV7-shieldin complex underpins DNA structure-specific NHEJ.

Ghezraoui H et al.

Nature, 2018

Biallelic inactivation of REV7 is associated with Fanconi anemia.

Bluteau D et al.

The Journal of Clinical Investigation, 2016

MAD2L2 controls DNA repair at telomeres and DNA breaks by inhibiting 5' end resection.

Boersma V et al.

Nature, 2015

REV7 counteracts DNA double-strand break resection and affects PARP inhibition.

Xu G et al.

Nature, 2015

A missense mutation in Rev7 disrupts formation of Polζ, impairing mouse development and repair of genotoxic agent-induced DNA lesions.

Khalaj M et al.

The Journal of Biological Chemistry, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."